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Likelihoods for a general class of ARGs under the SMC
Gertjan Bisschop1, Jerome Kelleher1, Peter Ralph2
1Big Data Institute, Li Ka Shing Centre for Health Information and Discovery, University of Oxford, Oxford, OX3 7LF, UK.
This study introduces a new backwards-time formulation for the Sequentially Markov Coalescent (SMC) model. This approach simplifies ancestral recombination graph (ARG) likelihood computation, improving ARG inference methods.
Area of Science:
- Population Genetics
- Computational Biology
- Bioinformatics
Background:
- Ancestral recombination graphs (ARGs) are crucial for understanding genetic variation.
- Recent advances enable ARG inference for large sample sizes, but heuristic methods lack topological accuracy for likelihood computation.
- Current methods struggle with precise recombination event details needed for models like the Sequentially Markov Coalescent (SMC).
Purpose of the Study:
- To present a backwards-time formulation of the SMC model.
- To derive a straightforward definition of ARG likelihood under this model.
- To develop ARG inference methods robust to recombination event precision and polytomies.
Main Methods:
- Developed a backwards-time formulation of the SMC model.
- Derived a likelihood definition for ARGs under this formulation.
- Investigated robustness to polytomies and imprecise recombination event data.
Main Results:
- The new formulation allows ARG likelihood computation without precise recombination event details.
- The method is robust to the presence of polytomies in ARGs.
- This work facilitates improved ARG inference, especially for large datasets.
Conclusions:
- The backwards-time SMC formulation simplifies ARG likelihood calculation.
- This approach enhances the feasibility and accuracy of ARG inference.
- Opens new possibilities for scalable and robust ARG inference in population genetics.
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